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Título : Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Autor : Arias Sierra, Andrés Augusto
Moncada Vélez, Marcela
Campbell, Tessa Mollie
Liu, Zhiyong
Zhang, Qian
Covill, Laura E
Zhang, Peng
Darazam, Ilad Alavi
Bastard, Paul
Bizien, Lucy
Bucciol, Giorgia
Enoksson, Sara Lind
Jouanguy, Emmanuelle
Karabela, Şemsi Nur
Khan, Taushif
Kendir-Demirkol, Yasemin
Mansouri, Davood
Marits, Per
Marr, Nico
Migeotte, Isabelle
Moens, Leen
Ozcelik, Tayfun
Pellier, Isabelle
Sendel, Anton
Şenoğlu, Sevtap
Shahrooei, Mohammad
Smith, C I Edvard
Vandernoot, Isabelle
Willekens, Karen
Yaşar, Kadriye Kart
Bergman, Peter
Abel, Laurent
Cobat, Aurélie
Casanova, Jean-Laurent
Meyts, Isabelle
Bryceson, Yenan T
metadata.dc.subject.*: COVID-19
Influenza, Human
Gripe Humana
SARS-CoV-2
Virus Diseases
Virosis
Viruses
Virus
https://id.nlm.nih.gov/mesh/D000086382
https://id.nlm.nih.gov/mesh/D007251
https://id.nlm.nih.gov/mesh/D000086402
https://id.nlm.nih.gov/mesh/D014777
https://id.nlm.nih.gov/mesh/D014780
Fecha de publicación : 2022
Editorial : Rockefeller University Press
Citación : Campbell TM, Liu Z, Zhang Q, Moncada-Velez M, Covill LE, Zhang P, Alavi Darazam I, Bastard P, Bizien L, Bucciol G, Lind Enoksson S, Jouanguy E, Karabela ŞN, Khan T, Kendir-Demirkol Y, Arias AA, Mansouri D, Marits P, Marr N, Migeotte I, Moens L, Ozcelik T, Pellier I, Sendel A, Şenoğlu, S, Shahrooei M, Smith CIE, Vandernoot I, Willekens K, Kart Yaşar K; COVID Human Genetic Effort; Bergman P, Abel L, Cobat A, Casanova JL, Meyts I, Bryceson YT. Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency. J Exp Med. 2022 Jul 4;219(7):e20220202. doi: 10.1084/jem.20220202. Epub 2022 Jun 7. Erratum in: J Exp Med. 2022 Dec 5;219(12):e2022020210282022c. doi: 10.1084/jem.2022020210282022
Resumen : ABSTRACT: Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of influenza- and SARS-CoV-2-specific memory CD4+ and CD8+ T cells. IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-β and compensatory adaptive immunity.
metadata.dc.identifier.eissn: 1540-9538
ISSN : 0022-1007
metadata.dc.identifier.doi: 10.1084/jem.20220202
Aparece en las colecciones: Artículos de Revista en Ciencias Médicas

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